Faraci C, Galmozzi A, Sesini E, Ianniello A, Milesi S, Saija A
Pediatr Med Chir. 1984 Jul-Aug;6(4):529-34.
The Laurence Moon Biedl Bardet syndrome is a polymorphous disease whose pathogenesis is still obscure. It is characterize by obesity, oligophrenia, polidactylia, retinitis pigmentosa, hipogonadism, but often there are various others symptoms. AA describe two cases. After a short explanation of de main features of this disease, they dwell upon the study of clinical objective symtomatology and upon instrumental and laboratory parameters regarding hormonal, metabolic and functional order of various organs and apparatuses. Both cases present all classic symptoms of this disease. In the first case we have noticed a deficit in LH and FSH, besides we have also noticed an asymmetry of the lateral ventricles of the brain prevalently on the right and a small increase in 17-KS and 17-OH-KS urinary. On the contrary in the second case we have noticed an EEG of epileptic type.
劳伦斯-穆恩-比德尔-巴德特综合征是一种多形性疾病，其发病机制仍不清楚。其特征为肥胖、智力低下、多指（趾）畸形、色素性视网膜炎、性腺功能减退，但常常还有各种其他症状。AA描述了两例病例。在简短解释了这种疾病的主要特征之后，他们详述了对临床客观症状学的研究以及关于各个器官和系统的激素、代谢和功能状态的仪器检查和实验室参数。两例病例均呈现出这种疾病的所有典型症状。在第一例病例中，我们注意到促黄体生成素（LH）和促卵泡生成素（FSH）缺乏，此外，我们还注意到大脑侧脑室主要在右侧不对称，以及尿17-酮类固醇（17-KS）和17-羟皮质类固醇（17-OH-KS）略有升高。相反，在第二例病例中，我们注意到脑电图呈癫痫类型。
